Spinal Muscular Informed Consent/Decline for Spinal Muscular Atrophy Resources About Integrated Genetics Atrophy SMA Carrier Screening (Continued from other side) Claire Altman Heine Foundation Integrated Genetics has been 1112 Montana Avenue a leader in genetic testing My signature below indicates that I have read, Suite 372 and counseling services for or had read to me, the above information and I Santa Monica, CA 90403 over 25 years. understand it. I have also read or had explained to (310) 260-3262 me the specific disease(s) or condition(s) tested www.clairealtmanheinefoundation.org This brochure is provided for, and the specific test(s) I am having, including by Integrated Genetics as the test descriptions, principles and limitations. Families of Spinal Muscular Atrophy an educational service for 925 Busse Road physicians and their patients. Elk Grove Village, IL 60007 For more information on I have had the opportunity to discuss the purposes (800) 886-1762 our genetic testing and and possible risks of this testing with my doctor or www.fsma.org someone my doctor has designated. I know that counseling services, genetic counseling is available to me before and National Society of Genetic Counselors please visit our web sites: after the testing. I have all the information I want, 401 N. Michigan Avenue www.mytestingoptions.com and all my questions have been answered. Chicago, IL 60611 www.integratedgenetics.com (312) 321-6834 I have decided that: www.nsgc.org References: 1) Prior TW. ACMG Practice Guidelines: Carrier screening for spinal muscular I want SMA carrier testing. Genetic Alliance atrophy. Genet Med 2008; 10:840-842. 4301 Connecticut Avenue NW 2) Meldrum C, et al. Spinal muscular Suite 404 atrophy genetic counseling access I do not want SMA carrier testing. and genetic knowledge: Parents’ Washington, D.C. 20008-2369 Perspectives. J Child Neurol 2007; 22:1019-1026. (202) 966-5557 3) Sugarman EA, et al. Pan-ethnic carrier www.geneticalliance.org screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet 2012; Patient Signature 20:27-32. Date The most common inherited cause of early childhood death Thanks to the Claire Altman Heine Foundation for Integrated Genetics is a business unit of Esoterix Genetic Laboratories, LLC, providing content for this spinal muscular atrophy a wholly-owned subsidiary of Laboratory Corporation of America Holdings. Obtained by patient guide. ©2012 Laboratory Corporation of America® Holdings. All rights reserved. rep-065-v4-0112 This model informed consent form is provided by Integrated Genetics as a courtesy to physicians and their patients. Integrated Genetics Integrated Genetics is a business unit of Esoterix Genetic Laboratories, LLC, Client Services (800) 848-4436 a wholly-owned subsidiary of Laboratory Corporation of America Holdings. www.integratedgenetics.com www.integratedgenetics.com Spinal Muscular Informed Consent/Decline for Spinal Muscular Atrophy Resources About Integrated Genetics Atrophy SMA Carrier Screening (Continued from other side) Claire Altman Heine Foundation Integrated Genetics has been 1112 Montana Avenue a leader in genetic testing My signature below indicates that I have read, Suite 372 and counseling services for or had read to me, the above information and I Santa Monica, CA 90403 over 25 years. understand it. I have also read or had explained to (310) 260-3262 me the specific disease(s) or condition(s) tested www.clairealtmanheinefoundation.org This brochure is provided for, and the specific test(s) I am having, including by Integrated Genetics as the test descriptions, principles and limitations. Families of Spinal Muscular Atrophy an educational service for 925 Busse Road physicians and their patients. Elk Grove Village, IL 60007 For more information on I have had the opportunity to discuss the purposes (800) 886-1762 our genetic testing and and possible risks of this testing with my doctor or www.fsma.org someone my doctor has designated. I know that counseling services, genetic counseling is available to me before and National Society of Genetic Counselors please visit our web sites: after the testing. I have all the information I want, 401 N. Michigan Avenue www.mytestingoptions.com and all my questions have been answered. Chicago, IL 60611 www.integratedgenetics.com (312) 321-6834 I have decided that: www.nsgc.org References: 1) Prior TW. ACMG Practice Guidelines: Carrier screening for spinal muscular I want SMA carrier testing. Genetic Alliance atrophy. Genet Med 2008; 10:840-842. 4301 Connecticut Avenue NW 2) Meldrum C, et al. Spinal muscular Suite 404 atrophy genetic counseling access I do not want SMA carrier testing. and genetic knowledge: Parents’ Washington, D.C. 20008-2369 Perspectives. J Child Neurol 2007; 22:1019-1026. (202) 966-5557 3) Sugarman EA, et al. Pan-ethnic carrier www.geneticalliance.org screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet 2012; Patient Signature 20:27-32. Date The most common inherited cause of early childhood death Thanks to the Claire Altman Heine Foundation for Integrated Genetics is a business unit of Esoterix Genetic Laboratories, LLC, providing content for this spinal muscular atrophy a wholly-owned subsidiary of Laboratory Corporation of America Holdings. Obtained by patient guide. ©2012 Laboratory Corporation of America® Holdings. All rights reserved. rep-065-v4-0112 This model informed consent form is provided by Integrated Genetics as a courtesy to physicians and their patients. Integrated Genetics Integrated Genetics is a business unit of Esoterix Genetic Laboratories, LLC, Client Services (800) 848-4436 a wholly-owned subsidiary of Laboratory Corporation of America Holdings. www.integratedgenetics.com www.integratedgenetics.com Spinal Muscular Informed Consent/Decline for Spinal Muscular Atrophy Resources About Integrated Genetics Atrophy SMA Carrier Screening (Continued from other side) Claire Altman Heine Foundation Integrated Genetics has been 1112 Montana Avenue a leader in genetic testing My signature below indicates that I have read, Suite 372 and counseling services for or had read to me, the above information and I Santa Monica, CA 90403 over 25 years. understand it. I have also read or had explained to (310) 260-3262 me the specific disease(s) or condition(s) tested www.clairealtmanheinefoundation.org This brochure is provided for, and the specific test(s) I am having, including by Integrated Genetics as the test descriptions, principles and limitations. Families of Spinal Muscular Atrophy an educational service for 925 Busse Road physicians and their patients. Elk Grove Village, IL 60007 For more information on I have had the opportunity to discuss the purposes (800) 886-1762 our genetic testing and and possible risks of this testing with my doctor or www.fsma.org someone my doctor has designated. I know that counseling services, genetic counseling is available to me before and National Society of Genetic Counselors please visit our web sites: after the testing. I have all the information I want, 401 N. Michigan Avenue www.mytestingoptions.com and all my questions have been answered. Chicago, IL 60611 www.integratedgenetics.com (312) 321-6834 I have decided that: www.nsgc.org References: 1) Prior TW. ACMG Practice Guidelines: Carrier screening for spinal muscular I want SMA carrier testing. Genetic Alliance atrophy. Genet Med 2008; 10:840-842. 4301 Connecticut Avenue NW 2) Meldrum C, et al. Spinal muscular Suite 404 atrophy genetic counseling access I do not want SMA carrier testing. and genetic knowledge: Parents’ Washington, D.C. 20008-2369 Perspectives. J Child Neurol 2007; 22:1019-1026. (202) 966-5557 3) Sugarman EA, et al. Pan-ethnic carrier www.geneticalliance.org screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet 2012; Patient Signature 20:27-32. Date The most common inherited cause of early childhood death Thanks to the Claire Altman Heine Foundation for Integrated Genetics is a business unit of Esoterix Genetic Laboratories, LLC, providing content for this spinal muscular atrophy a wholly-owned subsidiary of Laboratory Corporation of America Holdings. Obtained by patient guide. ©2012 Laboratory Corporation of America® Holdings. All rights reserved. rep-065-v4-0112 This model informed consent form is provided by Integrated Genetics as a courtesy to physicians and their patients. Integrated Genetics Integrated Genetics is a business unit of Esoterix Genetic Laboratories, LLC, Client Services (800) 848-4436 a wholly-owned subsidiary of Laboratory Corporation of America Holdings. www.integratedgenetics.com www.integratedgenetics.com Spinal Muscular 50% (2 out of 4) chance that the child will inherit If my test is negative, Informed Consent/Decline for one normal and one abnormal SMA gene, and will could I still be a carrier? Spinal Muscular Atrophy (SMA) Atrophy (SMA) be a carrier of SMA (but not affected) Carrier Screening A negative result significantly lowers, but does not 25% (1 out of 4) chance that the child will inherit completely eliminate, the risk of being a carrier of two abnormal SMA genes – one from each You should be certain you understand the SMA. Carrier screening does not detect less common This brochure contains general information parent – and will be affected with the disease following points: abnormalities (mutations) that cause SMA. about Spinal Muscular Atrophy (SMA) carrier 1. The purpose of my genetic testing is to determine screening and how SMA is inherited. It is our Could I be a carrier of SMA? whether I, or my baby, have mutation(s) known to be If the test shows I am a carrier, hope that you find this information helpful, but associated with SMA. You could be a carrier of SMA even if no one in what should I do? 2. This testing is done on a small sample of blood. For if you have any additional questions please the baby, testing is done on amniotic fluid, CVS, or your family has SMA and even if you already have contact your doctor or a genetics professional.